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High-Resolution Genomic Profiling of Adult and Pediatric Core-Binding-Factor Acute Myeloid Leukemia Reveals New Recurrent Genomic Alterations

ABSTRACT: To identify cooperating lesions in core-binding-factor acute myeloid leukemia (CBF-AML), we performed single-nucleotide polymorphism (SNP)-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations (CNAs) per case at diagnosis in both patient populations. Recurrent minimally deleted regions (MDRs) were identified at 7q36.1 (7.7%), 9q21.13 (5%), 11p13 (2.3%), and 17q11.2 (2%). Recurrent focal gains were identified at 8q24.21 (4.7%) and 11q25 (1.7%), both containing a single non-coding RNA. Recurrent regions of copy-neutral loss-of-heterozygosity were identified at 1p (1%), 4q (0.7%), and 19p (0.7%), with known mutated cancer genes present in the minimally altered region. Analysis of relapse samples identified recurrent MDRs at 3q13 (12.2%), 5q (4.9%), and 17p (4.9%).

ORGANISM(S): Homo sapiens

PROVIDER: GSE32462 | GEO | 2012/02/07

SECONDARY ACCESSION(S): PRJNA147873

REPOSITORIES: GEO

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High-Resolution Genomic Profiling of Adult and Pediatric Core-Binding-Factor Acute Myeloid Leukemia Reveals New Recurrent Genomic Alterations

Project description:To identify cooperating lesions in core-binding-factor acute myeloid leukemia (CBF-AML), we performed single-nucleotide polymorphism (SNP)-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations (CNAs) per case at diagnosis in both patient populations. Recurrent minimally deleted regions (MDRs) were identified at 7q36.1 (7.7%), 9q21.13 (5%), 11p13 (2.3%), and 17q11.2 (2%). Recurrent focal gains were identified at 8q24.21 (4.7%) and 11q25 (1.7%), both containing a single non-coding RNA. Recurrent regions of copy-neutral loss-of-heterozygosity were identified at 1p (1%), 4q (0.7%), and 19p (0.7%), with known mutated cancer genes present in the minimally altered region. Analysis of relapse samples identified recurrent MDRs at 3q13 (12.2%), 5q (4.9%), and 17p (4.9%). SNP genotyping was performed on 300 adult and pediatric CBF-AMLs; t(8;21), n=157 (adult, n=114; pediatric, n=43); and inv(16), n=143 (adult, n=104; pediatric, n=39). Germline control DNA from remission bone marrow or peripheral blood was available for paired analysis in 175 patients. In addition, for 41 patients, matched relapse samples were analyzed. Data were processed using reference alignment, dChipSNP and circular binary segmentation.

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Gene expression data ARID1A knockdown OE33 cells versus mock OE33 cells

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An integrated genomic and expression analysis of 7q deletion in SMZL (Oligo aCGH)

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